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  2. Fetal anomalies
  3. ADAMTS19
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Fetal anomalies

Gene: ADAMTS19

Amber List (moderate evidence)
ADAMTS19 (ADAM metallopeptidase with thrombospondin type 1 motif 19)
EnsemblGeneIds (GRCh38): ENSG00000145808
EnsemblGeneIds (GRCh37): ENSG00000145808
OMIM: 607513, Gene2Phenotype
ADAMTS19 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Causes non-syndromic heart disease including dilated aorta. Amber isolated cardiac, only if R21 eligibility criteria change
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heart valve disorder, MONDO:0002869

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Cardiac valvular dysplasia 2, OMIM:620067
OMIM
607513
Clinvar variants
Variants in ADAMTS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ADAMTS19 was added gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 31844321; 32323311 Phenotypes for gene: ADAMTS19 were set to Cardiac valvular dysplasia 2, OMIM:620067